Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New test spares couples with familial cancer the trauma of termination

20.06.2006
A new way of sparing couples the trauma of having to decide between having a baby with a high risk of developing a form of colorectal cancer later in life, or terminating the pregnancy, will be revealed on Tuesday, 20 June 2006 at the 22nd annual conference of the European Society of Human Reproduction and Embryology in Prague, Czech Republic. Professor Stéphane Viville, director of the biology of reproduction service at Strasbourg University Hospital, Strasbourg, France, will tell the conference that, using his team’s new test, it will be possible to offer preimplantation genetic diagnosis (PGD) to almost all cases of familial adenomatous polyposis (FAP), an adult-onset cancer which represents 1% of all cases of colorectal cancer.

PGD was originally proposed for couples at risk of having a child affected by severe genetic disorders such as cystic fibrosis, which manifest themselves at birth or in very early childhood. However, it is now possible to test for some diseases that occur at a later stage in life, such as Huntington’s disease and some hereditary cancers. “Because the child will carry only a risk – albeit it a high one – of developing these conditions during adulthood, many parents, as well as clinicians, have doubts about terminating such a pregnancy,” Professor Viville says. “In fact some couples would prefer not to have children in these circumstances.”

Twelve couples with a risk of passing on FAP to any children were referred to Professor Viville and his team between 2000 and 2005. At first the team worked on tests to detect the most common FAP mutation, but then, by carrying out double and triple diagnostic tests on each cell, were able to detect the many rarer mutations that are involved in familial cases. “Because the pathology is dominant, and only one member of the couple is affected and at risk of transmitting the disease,” said Professor Viville, “we only have to look for one mutation at a time.

“But there are a number of these mutations and therefore it is necessary to develop a different test for each if we are to be sure that PGD will be effective. Our test is very robust as well as being technically innovative – for the first time in this disease we have been able to use molecular technology at the single cell level, which allows us to detect mutations that are otherwise very difficult to identify.”

The team started eleven IVF cycles, of which nine gave rise to embryo biopsy and eight had an embryo transfer. From these, one boy has been born and two other pregnancies are on-going. Reanalysis of eleven un-transferred embryos confirmed PGD results for FAP mutations.

“We are now able to propose PGD to most couples at risk of transmitting a familial form of FAP to their children”, says Professor Viville. “With our experience growing all the time, we hope that we will shortly be able to develop new protocols which will enable us to offer PGD for all mutations involved in FAP, including those which occur for the first time.”

Mary Rice | alfa
Further information:
http://www.mrcommunication.org

More articles from Life Sciences:

nachricht What happens in the cell nucleus after fertilization
06.12.2016 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht Researchers uncover protein-based “cancer signature”
05.12.2016 | Universität Basel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Simple processing technique could cut cost of organic PV and wearable electronics

06.12.2016 | Materials Sciences

3-D printed kidney phantoms aid nuclear medicine dosing calibration

06.12.2016 | Medical Engineering

Robot on demand: Mobile machining of aircraft components with high precision

06.12.2016 | Power and Electrical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>